Linked Data
ClinVar Variation Id:
5153
ClinVar RCV Id:
RCV001807627
dbSNP Id:
rs587776616
ExAC:
7:138455887 GA / G
gnomAD v2:
7-138455887-GA-G
gnomAD v4:
7-138771142-GA-G
PubMed:
PMID:10973252
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138771144del , CM000669.2:g.138771144del | GRCh38 |
| NC_000007.13:g.138455889del , CM000669.1:g.138455889del | GRCh37 |
| NC_000007.12:g.138106429del | NCBI36 |
| NG_008145.1:g.32054del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310018.7:c.105del MANE Select | ENSP00000308122.2:p.Gln36SerfsTer5 | |
| ENST00000645515.1:c.105del | ENSP00000496421.1:p.Gln36SerfsTer5 | |
| ENST00000310018.6:c.105del | ENSP00000308122.2:p.Gln36SerfsTer5 | |
| ENST00000353492.4:c.105del | ENSP00000253856.6:p.Gln36SerfsTer5 | |
| ENST00000393054.5:c.105del | ENSP00000376774.1:p.Gln36SerfsTer5 | |
| ENST00000483139.1:n.354del | ||
| NM_020632.2:c.105del | NP_065683.2:p.Gln36SerfsTer5 | |
| NM_130840.2:c.105del | NP_570855.2:p.Gln36SerfsTer5 | |
| NM_130841.2:c.105del | NP_570856.2:p.Gln36SerfsTer5 | |
| XM_005250393.1:c.105del | XP_005250450.1:p.Gln36SerfsTer5 | |
| XM_005250394.2:c.105del | XP_005250451.1:p.Gln36SerfsTer5 | |
| XM_005250394.3:c.105del | XP_005250451.1:p.Gln36SerfsTer5 | |
| NM_020632.3:c.105del MANE Select | NP_065683.2:p.Gln36SerfsTer5 | |
| NM_130840.3:c.105del | NP_570855.2:p.Gln36SerfsTer5 | |
| NM_130841.3:c.105del | NP_570856.2:p.Gln36SerfsTer5 |